Zobrazeno 1 - 10
of 678
pro vyhledávání: '"10039 Institute of Medical Genetics"'
Autor:
Zanoni, Paolo, Steindl, Katharina, Sticht, Heinrich, Oneda, Beatrice, Joset, Pascal, Ivanovski, Ivan, Horn, Anselm H C, Cabello, Elena María, Laube, Julia, Zweier, Markus, Baumer, Alessandra, Rauch, Anita, Khan, Nadia
Publikováno v:
European Journal of Human Genetics, 31 (7)
Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive arteriopathy that represents a leading cause of transient ischemic attacks and strokes in childhood. Despite this, up to now no large, exclusively pediatric MMA cohort has be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5ad316c3148626fbb3245d9661223f
https://doi.org/10.5167/uzh-232786
https://doi.org/10.5167/uzh-232786
Autor:
Ziegler, Alban, Steindl, Katharina, Hanner, Ashleigh S, Kumar Kar, Rajesh, Prouteau, Clément, Boland, Anne, Deleuze, Jean Francois, Coubes, Christine, Bézieau, Stéphane, Küry, Sébastien, Maystadt, Isabelle, Le Mao, Morgane, Lenaers, Guy, Navet, Benjamin, Faivre, Laurence, Tran Mau-Them, Frédéric, Zanoni, Paolo, Chung, Wendy K, Rauch, Anita, Bonneau, Dominique, Park, Myung Hee
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1549-1558. ⟨10.1016/j.ajhg.2022.06.010⟩
Am J Hum Genet
American Journal of Human Genetics, 2022, 109 (8), pp.1549-1558. ⟨10.1016/j.ajhg.2022.06.010⟩
Am J Hum Genet
Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N(ε)-(4-amino-2-hydroxybutyl)lysine] in the eukaryotic initiation factor 5A (eIF5A). Hypusine is formed exclusively in eIF5A b
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Autor:
van Woerden, Geeske M, Senden, Richelle, de Konink, Charlotte, Trezza, Rossella Avagliano, Baban, Anwar, Bassetti, Jennifer Alisha, van Bever, Yolande, Bird, Lynne M, van Bon, Bregje W, Brooks, Alice S, Guan, Qiaoning, Klee, Eric W, Marcelis, Carlo, Rosado, Joel Morales, Schimmenti, Lisa A, Shikany, Amy R, Terhal, Paulien A, Nicole Weaver, K, Wessels, Marja W, van Wieringen, Hester, Hurst, Anna C, Gooch, Catherine F, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet
Publikováno v:
Human Mutation, 43(10), 1377-1395. Wiley-Liss Inc.
Human Mutation, 43, 1377-1395
Human Mutation, 43, 10, pp. 1377-1395
Human Mutation, 43, 1377-1395
Human Mutation, 43, 10, pp. 1377-1395
Contains fulltext : 282691.pdf (Publisher’s version ) (Open Access) Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor β-activated kinase 1, which plays a crucial role in many cellular proce
Autor:
Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a41c89cca5216b8f445818c692fe8c
https://doi.org/10.5167/uzh-231019
https://doi.org/10.5167/uzh-231019
Autor:
Lecca, Mauro, Pehlivan, Davut, Suñer, Damià Heine, Weiss, Karin, Coste, Thibault, Zweier, Markus, Oktay, Yavuz, Danial-Farran, Nada, Rosti, Vittorio, Bonasoni, Maria Paola, Malara, Alessandro, Contrò, Gianluca, Zuntini, Roberta, Pollazzon, Marzia, Pascarella, Rosario, Neri, Alberto, Fusco, Carlo, Marafi, Dana, Mitani, Tadahiro, Posey, Jennifer Ellen, Bayramoglu, Sadik Etka, Gezdirici, Alper, Hernandez-Rodriguez, Jessica, Cladera, Emilia Amengual, Miravet, Elena, Roldan-Busto, Jorge, Ruiz, María Angeles, Bauzá, Cristofol Vives, Ben-Sira, Liat, Sigaudy, Sabine, Begemann, Anaïs, Rauch, Anita, et al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3b3728a7d280250d31472c8dfedb1b
https://doi.org/10.5167/uzh-232788
https://doi.org/10.5167/uzh-232788
Autor:
Tan, Ge, Wolski, Witold Eryk, Kummer, Sandra, Hofstetter, Mara Carina, Theocharides, Alexandre P A, Manz, Markus G, Aebersold, Ruedi, Meier-Abt, Fabienne
Publikováno v:
Blood advances, 6 (11)
Polycythemia vera (PV) is a stem cell disorder characterized by hyperproliferation of the myeloid lineages and the presence of an activating JAK2 mutation. To elucidate mechanisms controlling PV stem and progenitor cell biology, we applied a recently
Autor:
Carrero, Laura, Antequera, Desireé, Alcalde, Ignacio, Megías, Diego, Figueiro-Silva, Joana, Merayo-Lloves, Jesús, Municio, Cristins, Carro, Eva
Publikováno v:
Acta Neuropathologica Communications. 11
The circadian clock is synchronized to the 24 h day by environmental light which is transmitted from the retina to the suprachiasmatic nucleus (SCN) primarily via the retinohypothalamic tract (RHT). Circadian rhythm abnormalities have been reported i
Autor:
Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Joset, Pascal, Steindl, Katharina, Rauch, Anita, et al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9be16f00ccd7a9581baf8dce19ef91a2
https://www.zora.uzh.ch/id/eprint/232351/
https://www.zora.uzh.ch/id/eprint/232351/
Autor:
Hiatt, Susan M, Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E Christopher, et al, Bachmann-Gagescu, Ruxandra, Rauch, Anita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::d2200527136c1303001565d56628b290
https://www.zora.uzh.ch/id/eprint/225493/
https://www.zora.uzh.ch/id/eprint/225493/